A General Test of Association for Quantitative Traits in Nuclear Families
Open accessAbstract
High-resolution mapping is an important step in the identification of complex disease genes. In outbred populations, linkage disequilibrium is expected to operate over short distances and could provide a powerful fine-mapping tool. Here we build on recently developed methods for linkage-disequilibrium mapping of quantitative traits to construct a general approach that can accommodate nuclear families of any size, with or without parental information. Variance components are used to construct a test that utilizes information from all available offspring but that is not biased in the presence of linkage or familiality. A permutation test is described for situations in which maximum-likelihood estimates of the variance components are biased. Simulation studies are used to investigate power and error rates of this approach and to highlight situations in which violations of multivariate normality assumptions warrant the permutation test. The relationship between power and the level of linkage disequilibrium for this test suggests that the method is well suited to the analysis of dense maps. The relationship between power and family structure is investigated, and these results are applicable to study design in complex disease, especially for late-onset conditions for which parents are usually not available. When parental genotypes are available, power does not depend greatly on the number of offspring in each family. Power decreases when parental genotypes are not available, but the loss in power is negligible when four or more offspring per family are genotyped. Finally, it is shown that, when siblings are available, the total number of genotypes required in order to achieve comparable power is smaller if parents are not genotyped.
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
Within-family genetic association estimates, such as those obtained from samples of siblings, can provide less biased estimates of direct genetic effects because they are unlikely to be affected by demographic and indirect genetic effects of parents.
“Within-family genetic association estimates, such as those obtained from samples of siblings, can provide less biased estimates of direct genetic effects because they are unlikely to be affected by demographic and indirect genetic effects of parents7,17,30–34.”
From Within-sibship genome-wide association analyses decrease bias in estimates of direct genetic effects (2022) · cites this paper as [31]
Split into 2 atoms — 1 confirmed, 1 partially supported, 0 disputed, 0 misattributed, 0 unverifiable. Expand the claim to see per-atom verdicts.
Experimental — accuracy not yet measured
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Cites
Introduction to Quantitative Genetics.
Edwards, A. W. F., & Falconer, D. S. (1982) · Biometrics · doi:10.2307/2529912 · Cited by 21,447 · see citing works
The Future of Genetic Studies of Complex Human Diseases
Risch, N., & Merikangas, K. (1996) · Science · doi:10.1126/science.273.5281.1516 · Cited by 5,355 · see citing works
Spielman, R. S., McGinnis, R. E., & Ewens, W. J. (1993) · PubMed · Cited by 3,679 · see citing works
Wiley Series in Probability and Mathematics Statistics
Huber, P. J. (1981) · Wiley series in probability and statistics · doi:10.1002/0471725250.scard · Cited by 2,257 · see citing works
Searle, S. R., Casella, G., & McCulloch, C. E. (1992) · Wiley Series in Probability and Statistics · doi:10.1002/9780470316856 · Cited by 1,926 · see citing works
The investigation of linkage between a quantitative trait and a marker locus
Haseman, J. K., & Elston, R. C. (1972) · Behavior Genetics · doi:10.1007/bf01066731 · Cited by 1,367 · see citing works
Variations on a Theme: Cataloging Human DNA Sequence Variation
Collins, F. S., Guyer, M. S., & Chakravarti, A. (1997) · Science · doi:10.1126/science.278.5343.1580 · Cited by 1,062 · see citing works
Introduction to Quantitative Genetics
P.B., S. (1963) · Poultry Science · doi:10.3382/ps.0420547 · Cited by 1,052 · see citing works
THE EVOLUTIONARY DYNAMICS OF COMPLEX POLYMORPHISMS,,
Lewontin, R. C., & Kojima, K. (1960) · Evolution · doi:10.1111/j.1558-5646.1960.tb03113.x · Cited by 769 · see citing works
Lander, E. S. (1999) · Nature Genetics · doi:10.1038/4427 · Cited by 556 · see citing works
Extensions to multivariate normal models for pedigree analysis
Hopper, J. L., & Mathews, J. D. (1982) · Annals of Human Genetics · doi:10.1111/j.1469-1809.1982.tb01588.x · Cited by 511 · see citing works
The use of a genetic map of biallelic markers in linkage studies
Kruglyak, L. (1997) · Nature Genetics · doi:10.1038/ng0997-21 · Cited by 497 · see citing works
Combined Linkage and Association Sib-Pair Analysis for Quantitative Traits
Fulker, D. W., Cherny, S. S., Sham, P. C., & Hewitt, J. K. (1999) · The American Journal of Human Genetics · doi:10.1086/302193 · Cited by 443 · see citing works
Weinberg, C. R., Wilcox, A. J., & Lie, R. T. (1998) · The American Journal of Human Genetics · doi:10.1086/301802 · Cited by 391 · see citing works
A Transmission Disequilibrium Test for Quantitative Trait Loci
Rabinowitz, D. (1997) · Human Heredity · doi:10.1159/000154433 · Cited by 230 · see citing works
Transmission-disequilibrium tests for quantitative traits.
Allison, D. B. (1997) · PubMed · Cited by 217 · see citing works
Tests for Linkage and Association in Nuclear Families
Martin, E. R., Kaplan, N. L., & Weir, B. S. (1997) · The American Journal of Human Genetics · doi:10.1086/514860 · Cited by 215 · see citing works
Use of siblings as controls in case‐control association studies
Curtis, D. (1997) · Annals of Human Genetics · doi:10.1046/j.1469-1809.1998.6210089.x · Cited by 189 · see citing works
A note on the application of the transmission disequilibrium test when a parent is missing.
Curtis, D., & Sham, P. C. (1995) · PubMed · Cited by 182 · see citing works
Transmission/disequilibrium tests for quantitative traits
Sun, F., Flanders, W. D., Yang, Q., & Zhao, H. (2000) · Annals of Human Genetics · doi:10.1046/j.1469-1809.2000.6460555.x · Cited by 172 · see citing works
Assessing genetic linkage and association with robust components of variance approaches
Amos, C. I., Zhu, D., & Boerwinkle, E. (1996) · Annals of Human Genetics · doi:10.1111/j.1469-1809.1996.tb01184.x · Cited by 154 · see citing works
It's raining SNPs, hallelujah?
Chakravarti, A. (1998) · Nature Genetics · doi:10.1038/885 · Cited by 138 · see citing works
Testing the association between polymorphic markers and quantitative traits in pedigrees
George, V. T., Elston, R. C., & Rao, D. C. (1987) · Genetic Epidemiology · doi:10.1002/gepi.1370040304 · Cited by 136 · see citing works
Sibling-Based Tests of Linkage and Association for Quantitative Traits
Allison, D. B., Heo, M., Kaplan, N. L., & Martin, E. R. (1999) · The American Journal of Human Genetics · doi:10.1086/302404 · Cited by 120 · see citing works
Wiley Series in Probability and Mathematical Statistics
Scott, D. W. (1992) · Wiley series in probability and statistics · doi:10.1002/9780470316849.oth1 · Cited by 116 · see citing works
Use of siblings as controls in case-control association studies
Curtis, D. (1997) · Annals of Human Genetics · doi:10.1017/s000348009700626x · Cited by 100 · see citing works
A permutation test for the robust sib-pair linkage method
WAN, Y., Cohen, J. C., & GUERRA, R. (1997) · Annals of Human Genetics · doi:10.1017/s0003480096005957 · Cited by 39 · see citing works
A Sib-Pair Regression Model of Linkage Disequilibrium for Quantitative Traits
Cardon, L. R. (2000) · Human Heredity · doi:10.1159/000022940 · Cited by 21 · see citing works
Self-citationFinite-Sample Properties of Family-Based Association Tests
Whittaker, J. C., & Thompson, D. J. (1999) · The American Journal of Human Genetics · doi:10.1086/302277 · Cited by 5 · see citing works
Flagged first, then by citations
Cited by
Sorted by citations
PLINK: a tool set for whole-genome association and population-based linkage analyses.
Purcell, S., Neale, B., Todd-Brown, K., Thomas, L., Ferreira, M. A. R., Bender, D., Maller, J., Sklar, P., de Bakker, P. I. W., Daly, M. J., et al. (2007) · The American Journal of Human Genetics · doi:10.1086/519795 · Cited by 34,089 · see citing works
Second-generation PLINK: rising to the challenge of larger and richer datasets
Chang, C. C., Chow, C. C., Tellier, L. C., Vattikuti, S., Purcell, S. M., & Lee, J. J. (2015) · Gigascience · doi:10.1186/s13742-015-0047-8 · Cited by 12,709 · see citing works
Genetics of Food Intake Self-Regulation in Childhood: Literature Review and Research Opportunities
Faith, M. S., Carnell, S., & Kral, T. V. E. (2013) · Human Heredity · doi:10.1159/000353879 · Cited by 7,628 · see citing works
Yu, J., Pressoir, G., Briggs, W. H., Bi, I. V., Yamasaki, M., Doebley, J., McMullen, M. D., Gaut, B. S., Nielsen, D. M., Holland, J. B., et al. (2005) · Nature Genetics · doi:10.1038/ng1702 · Cited by 4,155 · see citing works
Genome-wide association studies for common diseases and complex traits
Hirschhorn, J. N., & Daly, M. J. (2005) · Nature Reviews Genetics · doi:10.1038/nrg1521 · Cited by 2,853 · see citing works
Mixed linear model approach adapted for genome-wide association studies
Zhang, Z., Ersoz, E. S., Lai, C., Todhunter, R. J., Tiwari, H. K., Gore, M. A., Bradbury, P. J., Yu, J., Arnett, D. K., Ordovás, J. M., et al. (2010) · Nature Genetics · doi:10.1038/ng.546 · Cited by 2,132 · see citing works
Purcell, S., Cherny, S. S., & Sham, P. C. (2003) · Bioinformatics · doi:10.1093/bioinformatics/19.1.149 · Cited by 2,057 · see citing works
Genome-wide association studies
Uffelmann, E., Huang, Q. Q., Munung, N. S., de Vries, J., Okada, Y., Martin, A. R., Martin, H. C., Lappalainen, T., & Posthuma, D. (2021) · Nature Reviews Methods Primers · doi:10.1038/s43586-021-00056-9 · Cited by 1,849 · see citing works
Scuteri, A., Sanna, S., Chen, W.-M., Uda, M., Albai, G., Strait, J., Najjar, S., Nagaraja, R., Orrú, M., Usala, G., et al. (2007) · PLoS Genetics · doi:10.1371/journal.pgen.0030115 · Cited by 1,724 · see citing works
Self-citationCarnitine—metabolism and functions
Bremer, J. (1983) · Physiological Reviews · doi:10.1152/physrev.1983.63.4.1420 · Cited by 1,666 · see citing works
Newly identified loci that influence lipid concentrations and risk of coronary artery disease
Willer, C. J., Sanna, S., Jackson, A. U., Scuteri, A., Bonnycastle, L. L., Clarke, R., Heath, S. C., Timpson, N. J., Najjar, S. S., Stringham, H. M., et al. (2008) · Nature Genetics · doi:10.1038/ng.76 · Cited by 1,585 · see citing works
Self-citationTrait-associated SNPs are more likely to be eQTLs: annotation to enhance discovery from GWAS
Nicolae, D. L., Gamazon, E., Zhang, W., Duan, S., Dolan, M. E., & Cox, N. J. (2010) · PLoS Genetics · doi:10.1371/journal.pgen.1000888 · Cited by 1,292 · see citing works
Association study designs for complex diseases
Cardon, L. R., & Bell, J. I. (2001) · Nature Reviews Genetics · doi:10.1038/35052543 · Cited by 1,380 · see citing works
Self-citationStatus and Prospects of Association Mapping in Plants
Zhu, C., Gore, M. A., Buckler, E. S., & Yu, J. (2008) · The Plant Genome · doi:10.3835/plantgenome2008.02.0089 · Cited by 1,344 · see citing works
A tutorial on statistical methods for population association studies
Balding, D. J. (2006) · Nature Reviews Genetics · doi:10.1038/nrg1916 · Cited by 1,328 · see citing works
DNA methylation age of blood predicts all-cause mortality in later life
Marioni, R. E., Shah, S., McRae, A. F., Chen, B. H., Colicino, E., Harris, S. E., Gibson, J., Henders, A. K., Redmond, P., Cox, S. R., et al. (2015) · Genome Biology · doi:10.1186/s13059-015-0584-6 · Cited by 1,261 · see citing works
New approaches to population stratification in genome-wide association studies
Price, A. L., Zaitlen, N., Reich, D., & Patterson, N. J. (2010) · Nature Reviews Genetics · doi:10.1038/nrg2813 · Cited by 1,181 · see citing works
Genetic analysis of genome-wide variation in human gene expression
Morley, M. P., Molony, C. M., Weber, T. M., Devlin, J. L., Ewens, K. G., Spielman, R. S., & Cheung, V. G. (2004) · Nature · doi:10.1038/nature02797 · Cited by 1,207 · see citing works
Pedigree disequilibrium tests for multilocus haplotypes.
Dudbridge, F. (2003) · Genetic Epidemiology · doi:10.1002/gepi.10252 · Cited by 1,135 · see citing works
Methods of integrating data to uncover genotype-phenotype interactions
Ritchie, M. D., Holzinger, E. R., Li, R., Pendergrass, S. A., & Kim, D. (2015) · Nature Reviews Genetics · doi:10.1038/nrg3868 · Cited by 1,085 · see citing works
Are Political Orientations Genetically Transmitted?
Alford, J. R., Funk, C. L., & Hibbing, J. R. (2005) · American Political Science Review · doi:10.1017/s0003055405051579 · Cited by 976 · see citing works
Li, Y., Willer, C., Sanna, S., & Abecasis, G. (2009) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev.genom.9.081307.164242 · Cited by 990 · see citing works
Self-citationThe U.S.–Venezuela Collaborative Research Project*, & Wexler, N. S. (2004) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0308679101 · Cited by 761 · see citing works
A functional genetic link between distinct developmental language disorders
Vernes, S. C., Newbury, D. F., Abrahams, B. S., Winchester, L., Nicod, J., Groszer, M., Alarcón, M., Oliver, P. L., Davies, K. E., Geschwind, D. H., et al. (2008) · New England Journal of Medicine · doi:10.1056/nejmoa0802828 · Cited by 676 · see citing works
Linkage disequilibrium and association studies in higher plants: Present status and future prospects
Gupta, P. K., Rustgi, S., & Kulwal, P. L. (2005) · Plant Molecular Biology · doi:10.1007/s11103-005-0257-z · Cited by 670 · see citing works
Dudbridge, F. (2008) · Human Heredity · doi:10.1159/000119108 · Cited by 607 · see citing works
Cordell, H. J., & Clayton, D. G. (2005) · The Lancet · doi:10.1016/s0140-6736(05)67424-7 · Cited by 587 · see citing works
for the Multiple Sclerosis Genetics Group, Gregory, S. G., Schmidt, S., Seth, P., Oksenberg, J. R., Hart, J., Prokop, A., Caillier, S. J., Ban, M., Goris, A., et al. (2007) · Nature Genetics · doi:10.1038/ng2103 · Cited by 657 · see citing works
Heritability of Cardiovascular and Personality Traits in 6,148 Sardinians
Pilia, G., Chen, W., Scuteri, A., Orrù, M., Albai, G., Dei, M., Lai, S., Usala, G., Lai, M., Loi, P., et al. (2006) · PLoS Genetics · doi:10.1371/journal.pgen.0020132 · Cited by 543 · see citing works
Self-citationA QTL influencing F cell production maps to a gene encoding a zinc-finger protein on chromosome 2p15
Menzel, S., Garner, C., Gut, I., Matsuda, F., Yamaguchi, M., Heath, S., Foglio, M., Zelenika, D., Boland, A., Rooks, H., et al. (2007) · Nature Genetics · doi:10.1038/ng2108 · Cited by 529 · see citing works
Vasseur, F. (2002) · Human Molecular Genetics · doi:10.1093/hmg/11.21.2607 · Cited by 494 · see citing works
Family-based designs in the age of large-scale gene-association studies
Laird, N., & Lange, C. (2006) · Nature reviews genetics · doi:10.1038/nrg1839 · Cited by 477 · see citing works
Aulchenko, Y., de Koning, D., & Haley, C. (2007) · Genetics · doi:10.1534/genetics.107.075614 · Cited by 460 · see citing works
Demonstrating stratification in a European American population
Campbell, C. D., Ogburn, E. L., Lunetta, K. L., Lyon, H. N., Freedman, M. L., Groop, L. C., Altshuler, D., Ardlie, K. G., & Hirschhorn, J. N. (2005) · Nature Genetics · doi:10.1038/ng1607 · Cited by 444 · see citing works
Brumpton, B., Sanderson, E., Heilbron, K., Hartwig, F. P., Harrison, S., Vie, G. Å., Cho, Y., Howe, L. D., Hughes, A., Boomsma, D. I., et al. (2020) · Nature Communications · doi:10.1038/s41467-020-17117-4 · Cited by 402 · see citing works
Theory and practice in quantitative genetics
Posthuma, D., Beem, A. L., de Geus, E. J. C., van Baal, G. C. M., von Hjelmborg, J. B., Iachine, I., & Boomsma, D. I. (2003) · Twin Research · doi:10.1375/136905203770326367 · Cited by 416 · see citing works
Endophenotypes in the Genetic Analyses of Mental Disorders
Cannon, T. D., & Keller, M. C. (2006) · Annual Review of Clinical Psychology · doi:10.1146/annurev.clinpsy.2.022305.095232 · Cited by 399 · see citing works
PEDSTATS: descriptive statistics, graphics and quality assessment for gene mapping data
Wigginton, J. E., & Abecasis, G. R. (2005) · Computer applications in the biosciences · doi:10.1093/bioinformatics/bti529 · Cited by 408 · see citing works
Self-citationLinkage disequilibrium and the search for complex disease genes.Preprint
Jorde, L. (2000) · Genome Research · doi:10.1101/gr.144500 · Cited by 422 · see citing works
Family-Based Association Tests for Genomewide Association Scans
Chen, W., & Abecasis, G. R. (2007) · The American Journal of Human Genetics · doi:10.1086/521580 · Cited by 398 · see citing works
Self-citationGRR: graphical representation of relationship errors
Abecasis, G. R., Cherny, S. S., Cookson, W., & Cardon, L. R. (2001) · Bioinformatics · doi:10.1093/bioinformatics/17.8.742 · Cited by 383 · see citing works
Self-citationWithin-sibship genome-wide association analyses decrease bias in estimates of direct genetic effects
Howe, L. J., Nivard, M. G., Morris, T. T., Hansen, A. F., Rasheed, H., Cho, Y., Chittoor, G., Ahlskog, R., Lind, P. A., Palviainen, T., et al. (2022) · Nature Genetics · doi:10.1038/s41588-022-01062-7 · Cited by 377 · see citing works
Timmons, J. A., Knudsen, S., Rankinen, T., Koch, L. G., Sarzynski, M., Jensen, T., Keller, P., Scheele, C., Vollaard, N. B. J., Nielsen, S., et al. (2010) · Journal of Applied Physiology · doi:10.1152/japplphysiol.01295.2009 · Cited by 358 · see citing works
Reduced signal for polygenic adaptation of height in UK Biobank
Berg, J. J., Harpak, A., Sinnott-Armstrong, N., Joergensen, A. M., Mostafavi, H., Field, Y., Boyle, E. A., Zhang, X., Racimo, F., Pritchard, J. K., et al. (2019) · eLife · doi:10.7554/elife.39725 · Cited by 339 · see citing works
Cannon, T. D., Hennah, W., van Erp, T. G. M., Thompson, P. M., Lonnqvist, J., Huttunen, M., Gasperoni, T., Tuulio-Henriksson, A., Pirkola, T., Toga, A. W., et al. (2005) · Archives of General Psychiatry · doi:10.1001/archpsyc.62.11.1205 · Cited by 337 · see citing works
Sen, S., Nesse, R. M., Stoltenberg, S. F., Li, S., Gleiberman, L., Chakravarti, A., Weder, A. B., & Burmeister, M. (2002) · Neuropsychopharmacology · doi:10.1038/sj.npp.1300053 · Cited by 331 · see citing works
Positional cloning of a novel gene influencing asthma from Chromosome 2q14
Allen, M., Heinzmann, A., Noguchi, E., Abecasis, G. R., Broxholme, J., Ponting, C. P., Bhattacharyya, S., Tinsley, J. M., Zhang, Y., Holt, R., et al. (2003) · Nature Genetics · doi:10.1038/ng1256 · Cited by 326 · see citing works
Self-citationZhang, Y., Leaves, N. I., Anderson, G. G., Ponting, C. P., Broxholme, J., Holt, R., Edser, P. A. H., Bhattacharyya, S., Dunham, A., Adcock, I. M., et al. (2003) · Nature Genetics · doi:10.1038/ng1166 · Cited by 320 · see citing works
Self-citationThein, S. L., Menzel, S., Xu, P., Best, S., Jiang, J., Close, J. P., Silver, N., Gerovassili, A., Chen, P., Yamaguchi, M., et al. (2007) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0611393104 · Cited by 313 · see citing works
Pedigree tests of transmission disequilibrium
Abecasis, G. R., Cookson, W., & Cardon, L. R. (2000) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5200494 · Cited by 294 · see citing works
Self-citationGenome‐Wide Association Study of Alcohol Dependence Implicates a Region on Chromosome 11
Edenberg, H. J., Koller, D. L., Xuei, X., Wetherill, L., McClintick, J. N., Almasy, L., Bierut, L. J., Bucholz, K. K., Goate, A., Aliev, F., et al. (2010) · Alcoholism: Clinical and Experimental Research · doi:10.1111/j.1530-0277.2010.01156.x · Cited by 293 · see citing works
Abdurakhmonov, I. Y., & Abdukarimov, A. (2008) · International Journal of Plant Genomics · doi:10.1155/2008/574927 · Cited by 293 · see citing works
Levy, D. A., Larson, M. G., Benjamin, E. J., Newton‐Cheh, C., Wang, T. J., Hwang, S., Vasan, R. S., & Mitchell, G. F. (2007) · BMC Medical Genetics · doi:10.1186/1471-2350-8-s1-s3 · Cited by 290 · see citing works
Genome-wide association scan for five major dimensions of personality
Terracciano, A., Sanna, S., Uda, M., Deiana, B., Usala, G., Busonero, F., Maschio, A., Scally, M., Patriciu, N. S., Chen, W.-M., et al. (2008) · Molecular Psychiatry · doi:10.1038/mp.2008.113 · Cited by 286 · see citing works
Self-citationGenetic predisposition to external apical root resorption
Al-Qawasmi, R. A., Hartsfield, J. K., Everett, E. T., Wetherill, L. F., Liu, L., Foroud, T., Macri, J. V., & Roberts, W. E. (2003) · American Journal of Orthodontics and Dentofacial Orthopedics · doi:10.1067/mod.2003.42 · Cited by 280 · see citing works
Straub, R. E., Lipska, B. K., Egan, M. F., Goldberg, T. E., Callicott, J. H., Mayhew, M. B., Vakkalanka, R., Kolachana, B. S., Kleinman, J. E., & Weinberger, D. R. (2002) · Molecular Psychiatry · doi:10.1038/sj.mp.4001988 · Cited by 275 · see citing works
Contribution of genetic variation to transgenerational inheritance of DNA methylation
McRae, A. F., Powell, J. E., Henders, A. K., Bowdler, L. M., Hemani, G., Shah, S. H., Painter, J. N., Martin, N. G., Visscher, P. M., & Montgomery, G. W. (2014) · Genome biology · doi:10.1186/gb-2014-15-5-r73 · Cited by 270 · see citing works
PBAT: tools for family-based association studies.
Lange, C., DeMeo, D., Silverman, E. K., Weiss, S. T., & Laird, N. M. (2004) · The American Journal of Human Genetics · doi:10.1086/381563 · Cited by 268 · see citing works
NOD1 variation, immunoglobulin E and asthma
Hysi, P. G., Kabesch, M., Moffatt, M. F., Schedel, M., Carr, D., Zhang, Y., Boardman, B., von Mutius, E., Weiland, S. K., Leupold, W., et al. (2005) · Human Molecular Genetics · doi:10.1093/hmg/ddi087 · Cited by 266 · see citing works
Self-citationA Genomic Background Based Method for Association Analysis in Related Individuals
Amin, N., van Duijn, C. M., & Aulchenko, Y. S. (2007) · PLoS ONE · doi:10.1371/journal.pone.0001274 · Cited by 259 · see citing works
Andrew, T., Aviv, A., Falchi, M., Surdulescu, G. L., Gardner, J. P., Lu, X., Kimura, M., Kato, B. S., Valdes, A. M., & Spector, T. D. (2006) · The American Journal of Human Genetics · doi:10.1086/500052 · Cited by 252 · see citing works
Vickers, M. A. (2002) · Cardiovascular Research · doi:10.1016/s0008-6363(01)00534-x · Cited by 252 · see citing works
A Powerful and Flexible Multilocus Association Test for Quantitative Traits
Kwee, L. C., Liu, D., Lin, X., Ghosh, D., & Epstein, M. P. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2007.10.010 · Cited by 227 · see citing works
Strong Genetic Evidence of DCDC2 as a Susceptibility Gene for Dyslexia
Schumacher, J., Anthoni, H., Dahdouh, F., König, I. R., Hillmer, A. M., Kluck, N., Manthey, M., Plume, E., Warnke, A., Remschmidt, H., et al. (2005) · The American Journal of Human Genetics · doi:10.1086/498992 · Cited by 236 · see citing works
Genetics of human gene expression: mapping DNA variants that influence gene expression
Cheung, V. G., & Spielman, R. S. (2009) · Nature Reviews Genetics · doi:10.1038/nrg2630 · Cited by 233 · see citing works
Population genetic differentiation of height and body mass index across Europe
Robinson, M. R., Hemani, G., Medina‐Gómez, C., Mezzavilla, M., Esko, T., Shakhbazov, K., Powell, J. E., Vinkhuyzen, A. A. E., Berndt, S. I., Gustafsson, S., et al. (2015) · Nature Genetics · doi:10.1038/ng.3401 · Cited by 225 · see citing works
Self-citationFrancks, C., Paracchini, S., Smith, S. D., Richardson, A. J., Scerri, T. S., Cardon, L. R., Marlow, A. J., MacPhie, I. L., Walter, J., Pennington, B. F., et al. (2004) · The American Journal of Human Genetics · doi:10.1086/426404 · Cited by 233 · see citing works
Self-citationGlutathione S-transferase omega-1 modifiesage-at-onset of Alzheimer disease and Parkinson disease
Li, Y. (2003) · Human Molecular Genetics · doi:10.1093/hmg/ddg357 · Cited by 234 · see citing works
SCAN: SNP and copy number annotation
Gamazon, E. R., Zhang, W., Konkashbaev, A. I., Duan, S., Kistner, E. O., Nicolae, D. L., Dolan, M. E., & Cox, N. J. (2009) · Bioinformatics · doi:10.1093/bioinformatics/btp644 · Cited by 230 · see citing works
Investigation of Dyslexia and SLI Risk Variants in Reading- and Language-Impaired Subjects
Newbury, D. F., Paracchini, S., Scerri, T. S., Winchester, L. M., Addis, L., Richardson, A. J., Walter, J., Stein, J. F., Talcott, J. B., & Monaco, A. P. (2010) · Behavior Genetics · doi:10.1007/s10519-010-9424-3 · Cited by 224 · see citing works
Cordell, H. J., Barratt, B. J., & Clayton, D. G. (2004) · Genetic Epidemiology · doi:10.1002/gepi.10307 · Cited by 223 · see citing works
Filaggrin Mutations in Children with Severe Atopic Dermatitis
Morar, N., Cookson, W., Harper, J. I., & Moffatt, M. F. (2007) · Journal of Investigative Dermatology · doi:10.1038/sj.jid.5700739 · Cited by 222 · see citing works
Self-citationGenetic Advances in the Study of Speech and Language Disorders
Newbury, D. F., & Monaco, A. P. (2010) · Neuron · doi:10.1016/j.neuron.2010.10.001 · Cited by 218 · see citing works
Genetic analysis of radiation-induced changes in human gene expression
Smirnov, D., Morley, M., Shin, E., Spielman, R., & Cheung, V. (2009) · Nature · doi:10.1038/nature07940 · Cited by 221 · see citing works
FOXP2 Is Not a Major Susceptibility Gene for Autism or Specific Language Impairment
Newbury, D. F., Bonora, E., Lamb, J. A., Fisher, S. E., Lai, C. S. L., Baird, G., Jannoun, L., Slonims, V., Stott, C., Merricks, M. J., et al. (2002) · The American Journal of Human Genetics · doi:10.1086/339931 · Cited by 218 · see citing works
Willis‐Owen, S. A. G., Turri, M. G., Munafo, M. R., Surtees, P. G., Wainwright, N. W. J., Brixey, R. D., & Jonathan Flint, C. (2005) · Biological Psychiatry · doi:10.1016/j.biopsych.2005.04.050 · Cited by 210 · see citing works
Methods for Handling Multiple Testing
Rice, T., Schork, N. J., & Rao, D. C. (2008) · Advances in genetics · doi:10.1016/s0065-2660(07)00412-9 · Cited by 202 · see citing works
Addington, A. M., Gornick, M., Duckworth, J., Sporn, A. L., Gogtay, N., Bobb, A., GREENSTEIN, D. K., Lenane, M., Gochman, P., Baker, N., et al. (2004) · Molecular Psychiatry · doi:10.1038/sj.mp.4001599 · Cited by 207 · see citing works
GWAS of epigenetic aging rates in blood reveals a critical role for TERT
Lu, A. T.-H., Xue, L., Salfati, E., Chen, B. H., Ferrucci, L., Levy, D. A., Joehanes, R., Murabito, J. M., Kiel, D. P., Tsai, P.-C., et al. (2018) · Nature Communications · doi:10.1038/s41467-017-02697-5 · Cited by 206 · see citing works
Hammond, C. J., Andrew, T., Mak, Y. T., & Spector, T. D. (2004) · The American Journal of Human Genetics · doi:10.1086/423148 · Cited by 202 · see citing works
Sobel, E. M., Sengul, H., & Weeks, D. E. (2001) · Human Heredity · doi:10.1159/000053366 · Cited by 201 · see citing works
Genetic variation in the 22q11 locus and susceptibility to schizophrenia
Liu, H., Abecasis, G. R., Heath, S. C., Knowles, A., Demars, S., Chen, Y., Roos, J. L., Rapoport, J. L., Gogos, J. A., & Karayiorgou, M. (2002) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.232186099 · Cited by 201 · see citing works
Self-citationEvaluation of Genetic Variation Contributing to Differences in Gene Expression between Populations
Zhang, W., Duan, S., Kistner, E. O., Bleibel, W. K., Huang, R. S., Clark, T. A., Chen, T. X., Schweitzer, A. C., Blume, J. E., Cox, N. J., et al. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2007.12.015 · Cited by 200 · see citing works
Seshadri, S. S., DeStefano, A. L., Au, R., Massaro, J. M., Beiser, A., Kelly‐Hayes, M., Kase, C. S., D’Agostino, R. B., DeCarli, C. S., Atwood, L. D., et al. (2007) · BMC Medical Genetics · doi:10.1186/1471-2350-8-s1-s15 · Cited by 199 · see citing works
A multivariate family-based association test using generalized estimating equations: FBAT-GEE
Lange, C. (2003) · Biostatistics · doi:10.1093/biostatistics/4.2.195 · Cited by 198 · see citing works
Huang, R. S., Duan, S., Bleibel, W. K., Kistner, E. O., Zhang, W., Clark, T. A., Chen, T. X., Schweitzer, A. C., Blume, J. E., Cox, N. J., et al. (2007) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0703736104 · Cited by 197 · see citing works
Support for involvement of neuregulin 1 in schizophrenia pathophysiology
Petryshen, T. L., Middleton, F. A., Kirby, A. W., Aldinger, K. A., Purcell, S., Tahl, A. R., Morley, C. P., McGann, L., Gentile, K. L., Rockwell, G. N., et al. (2004) · Molecular Psychiatry · doi:10.1038/sj.mp.4001608 · Cited by 195 · see citing works
Tepper, B. J., Koelliker, Y., Zhao, L., Ullrich, N. V., Lanzara, C., D’Adamo, P., Ferrara, A., Ulivi, S., Esposito, L., & Gasparini, P. (2008) · Obesity · doi:10.1038/oby.2008.357 · Cited by 194 · see citing works
MacGregor, S., Lind, P. A., Bucholz, K. K., Hansell, N. K., Madden, P. A. F., Richter, M. M., Montgomery, G. W., Martin, N. G., Heath, A. C., & Whitfield, J. B. (2008) · Human Molecular Genetics · doi:10.1093/hmg/ddn372 · Cited by 194 · see citing works
Correlated genotypes in friendship networks
Fowler, J. H., Settle, J. E., & Christakis, N. A. (2011) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1011687108 · Cited by 188 · see citing works
Loss-of-function variants in endothelial lipase are a cause of elevated HDL cholesterol in humans
Edmondson, A. C., Brown, R., Kathiresan, S., Cupples, L. A., Demissie, S., Manning, A. K., Jensen, M. K., Rimm, E. B., Wang, J., Rodrigues, A., et al. (2009) · Journal of Clinical Investigation · doi:10.1172/jci37176 · Cited by 193 · see citing works
Genomics and Genetics in the Biology of Adaptation to Exercise
Bouchard, C., Rankinen, T., & Timmons, J. A. (2011) · Comprehensive physiology · doi:10.1002/cphy.c100059 · Cited by 211 · see citing works
CMIP and ATP2C2 Modulate Phonological Short-Term Memory in Language Impairment
Newbury, D. F., Winchester, L. M., Addis, L., Paracchini, S., Buckingham, L.-L., Clark, A., Cohen, W., Cowie, H., Dworzynski, K., Everitt, A., et al. (2009) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2009.07.004 · Cited by 182 · see citing works
Morales, F., Couto, J. M., Higham, C. F., Hogg, G., Cuenca, P., Braida, C., Wilson, R. H., Adam, B., Valle, G. D., Brian, R., et al. (2012) · Human Molecular Genetics · doi:10.1093/hmg/dds185 · Cited by 181 · see citing works
G enetic F actors in E xternal A pical R oot R esorption and O rthodontic T reatment
Hartsfield, J. K., Everett, E. T., & Al-Qawasmi, R. A. (2004) · Critical Reviews in Oral Biology & Medicine · doi:10.1177/154411130401500205 · Cited by 177 · see citing works
Noguchi, E., Nishimura, F., Fukai, H., Kim, J. K., Ichikawa, K., Shibasaki, M., & Arinami, T. (2004) · Clinical & Experimental Allergy · doi:10.1111/j.1365-2222.2004.01839.x · Cited by 176 · see citing works
Al-Qawasmi, R. A., Hartsfield, J. K., Everett, E. T., Wetherill, L. F., Liu, L., Foroud, T., Macri, J. V., & Roberts, W. E. (2003) · Journal of Dental Research · doi:10.1177/154405910308200506 · Cited by 172 · see citing works
RNA-Seq Identifies SNP Markers for Growth Traits in Rainbow Trout
Salem, M., Vallejo, R. L., Leeds, T. D., Palti, Y., Liu, S., Sabbagh, A., Rexroad, C. E., & Yao, J. (2012) · PLoS ONE · doi:10.1371/journal.pone.0036264 · Cited by 170 · see citing works
Variants in TF and HFE Explain ∼40% of Genetic Variation in Serum-Transferrin Levels
Benyamin, B., McRae, A. F., Zhu, G., Gordon, S. D., Henders, A. K., Palotie, A. V., Peltonen, L., Martin, N. G., Montgomery, G. W., Whitfield, J. B., et al. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2008.11.011 · Cited by 169 · see citing works
5′ Flanking Variants of Resistin Are Associated With Obesity
Engert, J. C., Vohl, M., Williams, S. M., Lepage, P., Loredo‐Osti, J., Faith, J., Doré, C., Renaud, Y., Burtt, N. P., Villeneuve, A., et al. (2002) · Diabetes · doi:10.2337/diabetes.51.5.1629 · Cited by 169 · see citing works
- Authors
- Abecasis, G. R., Cardon, L. R., & Cookson, W. O. C.
- Affiliations
- Centre for Human Genetics (GB)
- Corresponding author
- Abecasis, G.R.
- ORCID
- Abecasis, G.R.
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2000-01
- Volume
- 66
- Issue
- 1
- Pages
- 279-292
- ISSN
- 0002-9297 (ISSN-L)
- PMC
- PMC1288332
- OpenAlex
- W2078625752
- Cited by
- 1,126
- References
- 30
- Citations by year
- 2026: 2 · 2025: 3 · 2024: 7 · 2023: 7 · 2022: 6 · 2021: 13 · 2020: 15 · 2019: 13 · 2018: 18 · 2017: 23 · 2016: 22 · 2015: 26 · 2014: 27 · 2013: 38 · 2012: 51
- FWCI
- 27.12
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- The American Journal of Human Genetics (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Wellcome Trust
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Mapping and Diversity in Plants and Animals
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and phenotypic traits in livestock
- Keywords
- association mapping, quantitative traits, nuclear family, variance components, permutation tests, fine mapping, power analysis, family structure, parental genotypes, multivariate normality, research design
- MeSH terms
- Genetics, Population, Humans, Models, Genetic, Nuclear Family, Linkage Disequilibrium, Quantitative Trait, Heritable
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review